Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7046

Name

TGFBR1

Synonymous

AAT5|ACVRLK4|ALK-5|ALK5|LDS1A|LDS2A|MSSE|SKR4|TGFR-1;transforming growth factor, beta receptor 1;TGFBR1;transforming growth factor, beta receptor 1

Definition

TGF-beta receptor type I|TGF-beta receptor type-1|TGF-beta type I receptor|activin A receptor type II-like kinase, 53kD|activin A receptor type II-like kinase, 53kDa|activin A receptor type II-like protein kinase of 53kD|activin receptor-like kinase 5|ser

Position

9q22

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for TGFBR1

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.P369P; chr9:101907147-101907147

lungadenocarcinoma; carcinoma

p.S336fs*21; chr9:101907047-101907054

lungadenocarcinoma; carcinoma

p.V444G; chr9:101910011-101910011

lungadenocarcinoma; carcinoma

p.T296I; chr9:101904899-101904899

lungadenocarcinoma; carcinoma

p.L340fs*20; chr

lungsmall_cell_carcinoma; carcinoma

p.T296I; chr9:101904899-101904899

lungadenocarcinoma; carcinoma

p.L495L; chr9:101911560-101911560

lungadenocarcinoma; carcinoma

p.G214V; chr9:101900207-101900207

lungadenocarcinoma; carcinoma

p.L340fs*20; chr9:101907057-101907058

lungsmall_cell_carcinoma; carcinoma

p.E209Q; chr9:101900191-101900191

lungadenocarcinoma; carcinoma

p.L53fs*20; chr9:101891193-101891193

lungadenocarcinoma; carcinoma

p.S416F; chr9:101908883-101908883

lungadenocarcinoma; carcinoma

p.C86Y; chr9:101891296-101891296

lungadenocarcinoma; carcinoma


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